Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Seizures: Classification01:13

Seizures: Classification

309
Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
309
Arteries of the Lower Limbs01:24

Arteries of the Lower Limbs

181
Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
181
Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

Antiepileptic Drugs: GABAergic Pathway Potentiators

349
γ-aminobutyric acid or GABA, plays a pivotal role as an inhibitory neurotransmitter in the brain. GABA pathway potentiators, also known as GABAergic drugs, are a class of pharmaceutical agents designed to enhance the functioning of the GABAergic system. These medications primarily treat epilepsy, a neurological disorder characterized by recurrent seizures.
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for...
349
Disorders of the Nervous Tissue01:28

Disorders of the Nervous Tissue

1.1K
Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
1.1K
Antiepileptic Drugs: Glutamate Antagonists01:14

Antiepileptic Drugs: Glutamate Antagonists

300
Glutamate is a fundamental neurotransmitter in the central nervous system, playing a vital role in neuronal communication and various cognitive processes. Glutamate stands as the principal excitatory neurotransmitter in the brain. Its presence is crucial for the communication between neurons, underpinning essential processes such as synaptic transmission, neuronal excitability, and plasticity. These functions are vital for higher-order cognitive processes, including learning and memory. The...
300

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

On-site exposure to clinical epilepsy practice for experimental scientists engaged in epilepsy research: A pilot study by the ILAE commission on neurobiology.

Epilepsia open·2026
Same author

Viewpoint: Decline in Speech and Language Skills May Signal Childhood Dementia.

American journal of speech-language pathology·2026
Same author

Efficacy of Levetiracetam in Patients With Pediatric Epilepsy: A Systematic Review and Meta-Analysis.

Neurology·2026
Same author

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

medRxiv : the preprint server for health sciences·2026
Same author

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

Epilepsia open·2026
Same author

High-resolution single-cell mapping of clonal hematopoiesis and structural variation in aplastic anemia.

Nature genetics·2026
Same journal

Accidental hypothermia.

Nature reviews. Disease primers·2026
Same journal

Accidental hypothermia.

Nature reviews. Disease primers·2026
Same journal

Primary aldosteronism.

Nature reviews. Disease primers·2026
Same journal

Primary aldosteronism.

Nature reviews. Disease primers·2026
Same journal

Buruli ulcer in Africa: between innovation and pragmatism.

Nature reviews. Disease primers·2026
Same journal

Author Correction: Atopic dermatitis.

Nature reviews. Disease primers·2026
See all related articles

Related Experiment Video

Updated: Jun 14, 2025

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
09:57

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Published on: September 20, 2024

2.6K

Developmental and epileptic encephalopathies.

Ingrid E Scheffer1,2,3, Sameer Zuberi4,5, Heather C Mefford6

  • 1Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia. scheffer@unimelb.edu.au.

Nature Reviews. Disease Primers
|September 5, 2024
PubMed
Summary
This summary is machine-generated.

Developmental and epileptic encephalopathies are severe epilepsy conditions causing developmental issues. Identifying genetic causes enables precision medicine for better patient outcomes.

More Related Videos

A Model for Epilepsy of Infectious Etiology using Theiler's Murine Encephalomyelitis Virus
05:33

A Model for Epilepsy of Infectious Etiology using Theiler's Murine Encephalomyelitis Virus

Published on: June 23, 2022

2.7K
Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice
09:29

Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice

Published on: June 11, 2020

3.3K

Related Experiment Videos

Last Updated: Jun 14, 2025

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
09:57

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Published on: September 20, 2024

2.6K
A Model for Epilepsy of Infectious Etiology using Theiler's Murine Encephalomyelitis Virus
05:33

A Model for Epilepsy of Infectious Etiology using Theiler's Murine Encephalomyelitis Virus

Published on: June 23, 2022

2.7K
Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice
09:29

Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice

Published on: June 11, 2020

3.3K

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Developmental and epileptic encephalopathies (DEEs) are severe epilepsy syndromes with onset in infancy or childhood.
  • DEEs present with seizures, developmental slowing/regression, and numerous comorbidities like intellectual disability and autism spectrum disorder.
  • These conditions impose a significant lifelong burden on patients, families, and healthcare systems.

Purpose of the Study:

  • To summarize the current understanding of DEEs, focusing on genetic etiologies and management strategies.
  • To highlight the role of next-generation sequencing in identifying genetic causes of DEEs.
  • To emphasize the importance of holistic management and precision medicine for improving patient outcomes.

Main Methods:

  • Review of current literature on developmental and epileptic encephalopathies.
  • Analysis of genetic findings from next-generation sequencing studies.
  • Discussion of pathophysiological mechanisms and management approaches.

Main Results:

  • Genetic causes are identified in over 50% of DEE patients using next-generation sequencing.
  • Over 900 genes have been linked to monogenic forms of DEEs, implicating various cellular processes.
  • Polygenic risk scores indicate common variants also influence phenotypic variability.

Conclusions:

  • Identifying the genetic etiology of DEEs is crucial for developing targeted precision medicines.
  • Holistic management, considering both epilepsy syndrome and etiology, is essential for patient care.
  • Advances in genetic technologies are improving the diagnosis and treatment of these devastating neurological disorders.